中文摘要：

目的探讨Toll样受体9(Toll-like receptor 9,TLR9)基因rs352140和rs187084位点多态性与重症肌无力(myasthenia gravis,MG)的相关性。方法纳入109例MG患者和162例健康体检者。采用聚合酶链反应-限制性内切酶多态性方法对TLR9基因rs352140和rs187084位点分型,并在MG组与对照组、MG各亚组(性别、发病年龄、胸腺情况、最严重时Osserman分型、Oosterhuis评分和激素近期疗效)与对照组、MG各亚组之间比较两位点等位基因频率和共显性、加性、过显性遗传模型下基因型频率的差异。结果 TLR9基因rs352140和rs187084位点等位基因频率和共显性、加性、过显性遗传模型下的基因型频率在MG组与对照组、MG各亚组与对照组及MG各亚组之间差异无统计学意义(P>0.05)。结论 TLR9基因rs352140和rs187084位点多态性与重症肌无力的易感性、严重程度和激素疗效无相关性。

英文摘要：

Objective To investigate the correlation between Toll-like receptor 9 ( TLR9 ) polymorphism and the susceptibility, severity and short-term effect of glucocorticoid in myasthenia gravis ( MG) patients. Methods One hundred and nine MG patients and 162 healthy controls in Han Chinese population were enrolled. Subgroups were divided by gender, onset age, thymoma sta-tus, Osserman type, Oosterhuis score and short-term effect of glucocorticoid. Rs352140 and rs187084 were genotyped by polymerase chain reaction-based restriction fragment length polymor-phism (PCR-RFLP) method. Allele frequencies and genotype frequencies (under codominant, log-additive and over-dominant mode of inheritance) were compared between MG/control group, MG subgroups/control group and each pairs of MG subgroups. Results In rs352140 and rs187084, there were no significant differences in allele frequencies and genotype frequencies ( under codomi-nant, log-additive and over-dominant mode of inheritance ) among MG/control group, MG sub-groups/control group and MG subgroups ( P>0. 05 ) . Conclusion No correlation was found be-tween rs352140 and rs187084 polymorphisms and the susceptibility, severity and short-term effect of glucocorticoid in myasthenia gravis patients.